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TRIM25 mutation (p.C168*), coding for an E3 ubiquitin ligase, is a cause of early-onset autosomal dominant dementia with amyloid load and parkinsonism.
Gómez-Tortosa E, Baradaran-Heravi Y, Dillen L, Choudhury NR, Agüero Rabes P, Pérez-Pérez J, Kocoglu C, Sainz MJ, Ruiz González A, Téllez R, Cremades-Jimeno L, Cárdaba B; EU EOD Consortium; Van Broeckhoven C, Michlewski G, van der Zee J. Gómez-Tortosa E, et al. Among authors: sainz mj. Alzheimers Dement. 2023 Jul;19(7):2805-2815. doi: 10.1002/alz.12913. Epub 2022 Dec 28. Alzheimers Dement. 2023. PMID: 36576960
Variability of age at onset in siblings with familial Alzheimer disease.
Gómez-Tortosa E, Barquero MS, Barón M, Sainz MJ, Manzano S, Payno M, Ros R, Almaraz C, Gómez-Garré P, Jiménez-Escrig A. Gómez-Tortosa E, et al. Among authors: sainz mj. Arch Neurol. 2007 Dec;64(12):1743-8. doi: 10.1001/archneur.64.12.1743. Arch Neurol. 2007. PMID: 18071037
Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.
Gómez-Tortosa E, Barquero S, Barón M, Gil-Neciga E, Castellanos F, Zurdo M, Manzano S, Muñoz DG, Jiménez-Huete A, Rábano A, Sainz MJ, Guerrero R, Gobernado I, Pérez-Pérez J, Jiménez-Escrig A. Gómez-Tortosa E, et al. Among authors: sainz mj. J Alzheimers Dis. 2010;19(3):873-84. doi: 10.3233/JAD-2010-1292. J Alzheimers Dis. 2010. PMID: 20157243
Visual hallucinations and HLA class II antigens in cortical dementia.
Gómez-Tortosa E, Aguerri M, Sainz MJ, Losada M, García-Ruiz PJ, Cárdaba B. Gómez-Tortosa E, et al. Among authors: sainz mj. Dement Geriatr Cogn Disord. 2010;30(1):8-11. doi: 10.1159/000315545. Epub 2010 Jul 3. Dement Geriatr Cogn Disord. 2010. PMID: 20606439
Outcome of mild cognitive impairment comparing early memory profiles.
Gómez-Tortosa E, Mahillo-Fernández I, Guerrero R, Montoya J, Alonso A, Sainz MJ. Gómez-Tortosa E, et al. Among authors: sainz mj. Am J Geriatr Psychiatry. 2012 Oct;20(10):827-35. doi: 10.1097/JGP.0b013e31823038c6. Am J Geriatr Psychiatry. 2012. PMID: 21934475
Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation.
Gómez-Tortosa E, Van der Zee J, Ruggiero M, Gijselinck I, Esteban-Pérez J, García-Redondo A, Borrego-Hernández D, Navarro E, Sainz MJ, Pérez-Pérez J, Cruts M, Van Broeckhoven C, Guerrero-López R; EU EOD Consortium. Gómez-Tortosa E, et al. Among authors: sainz mj. J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):996-997. doi: 10.1136/jnnp-2016-315250. Epub 2017 Apr 1. J Neurol Neurosurg Psychiatry. 2017. PMID: 28365590 No abstract available.
SORL1 Variants in Familial Alzheimer's Disease.
Gómez-Tortosa E, Ruggiero M, Sainz MJ, Villarejo-Galende A, Prieto-Jurczynska C, Venegas Pérez B, Ordás C, Agüero P, Guerrero-López R, Pérez-Pérez J. Gómez-Tortosa E, et al. Among authors: sainz mj. J Alzheimers Dis. 2018;61(4):1275-1281. doi: 10.3233/JAD-170590. J Alzheimers Dis. 2018. PMID: 29376855
35 results